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Glucose-6-phosphate dehydrogenase deficiency and the sickle cell gene in Makkah, Saudi Arabia
M A el-Hazmi1, A S Warsy, H H Bahakim
1Medical Biochemistry Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Insights
This study investigated glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in Saudi Arabia. The research identified common G-6-PD variants and their frequencies in the Makkah region, finding no interaction with sickle cell genes.
Area of Science:
- Genetics
- Hematology
- Public Health
Background:
- Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a common inherited red blood cell disorder.
- Understanding G-6-PD variants is crucial for managing hemolytic anemia and drug-induced reactions.
- Previous data on G-6-PD deficiency prevalence in Saudi Arabia, particularly the Makkah region, is limited.
Purpose of the Study:
- To determine the frequency of severe G-6-PD deficiency in Saudi males and females in the Makkah area.
- To identify and characterize various G-6-PD phenotypes and their gene frequencies.
- To investigate the prevalence of the sickle cell gene and its potential interaction with G-6-PD deficiency.
Main Methods:
- A cross-sectional study was conducted on 689 individuals (males and females) residing in the Makkah area.
- G-6-PD deficiency and phenotypes were identified using standard biochemical and genetic methods.
- Gene frequencies for identified G-6-PD variants and the sickle cell gene were calculated.
Main Results:
- The frequency of severe G-6-PD deficiency was 0.055 in males and 0.042 in females.
- Identified G-6-PD phenotypes included G-6-PD-A+, G-6-PD-A-, G-6-PD-Mediterranean, and G-6-PD-Mediterranean-like.
- G-6-PD-Mediterranean and G-6-PD-Mediterranean-like variants were the primary causes of severe and mild deficiency, respectively. The sickle cell gene frequency was 0.029, with no observed interaction with G-6-PD deficiency.
Conclusions:
- The study provides essential data on G-6-PD deficiency prevalence and variant distribution in the Makkah region of Saudi Arabia.
- G-6-PD-Mediterranean and G-6-PD-Mediterranean-like are significant contributors to G-6-PD deficiency in this population.
- The absence of interaction between sickle cell and G-6-PD deficiency genes simplifies genetic counseling and clinical management in this region.
Abstract:
This study was conducted on 689 Saudi males and females living in the Makkah area in the western province of Saudi Arabia. The frequency of severe glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in the male and female populations was 0.055 and 0.042 respectively. The normal G-6-PD was G-6-PD-B+ and the G-6-PD phenotypes identified included G-6-PD-A+, G-6-PD-A-, G-6-PD-Mediterranean, and G-6-PD-Mediterranean-like at gene frequencies of 0.0288, 0.0026, 0.05497, and 0.1969 in the male population and 0.026, 0.0146, 0.0407, and 0.02606 in the female population. The main variants producing severe and mild G-6-PD deficiency were G-6-PD-Mediterranean and G-6-PD-Mediterranean-like, respectively. The sickle cell gene was identified at a frequency of 0.029 and no interaction between sickle cell and G-6-PD deficiency genes was encountered.